Canonical Allele Identifier: CA358785177
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442354G>A , CM000666.2:g.177442354G>A GRCh38
NC_000004.11:g.178363508G>A , CM000666.1:g.178363508G>A GRCh37
NC_000004.10:g.178600502G>A NCBI36
NG_011845.2:g.5150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.22C>T MANE Select ENSP00000264595.2:p.Pro8Ser
ENST00000264595.6:c.22C>T ENSP00000264595.2:p.Pro8Ser
ENST00000506853.5:n.56C>T
ENST00000510955.5:n.56C>T
ENST00000511231.1:n.56C>T
NM_000027.3:c.22C>T NP_000018.2:p.Pro8Ser
NM_001171988.1:c.22C>T NP_001165459.1:p.Pro8Ser
NR_033655.1:n.150C>T
XM_006714123.2:c.22C>T XP_006714186.1:p.Pro8Ser
XR_001741155.2:n.116C>T
NM_000027.4:c.22C>T MANE Select NP_000018.2:p.Pro8Ser
NM_001171988.2:c.22C>T NP_001165459.1:p.Pro8Ser
NR_033655.2:n.84C>T